Assay Details
Target Gene Details
Entrez Gene ID: | 5034 |
Gene Name: | prolyl 4-hydroxylase subunit beta |
Gene Aliases: |
CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB |
Location: |
Chr.17:81843158-81860668 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | NP_000909.2 | ||
AB062434.1 | BAB93497.1 | |||
AK095938.1 | ||||
AK128783.1 | ||||
AK297081.1 | ||||
AK297967.1 | ||||
AK300561.1 | ||||
AK315631.1 | ||||
BC010859.1 | AAH10859.1 | |||
BC014504.1 | ||||
BC029617.1 | AAH29617.1 | |||
BC071892.1 | AAH71892.1 | |||
CA412209.1 | ||||
J02783.1 | AAA61169.1 | |||
X05130.1 | CAA28775.1 | |||
X07077.1 | CAA30112.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | ZNF750 LOC101929511 CCDC137 RAC3 C17orf62 GPS1 C17orf89 MCRIP1 MIR3186 MIR6786 CCDC57 NPLOC4 SLC16A3 SNORD134 DUS1L AATK MIR6787 LOC101929552 NARF CEP131 ALYREF OXLD1 RAB40B LOC105376791 LOC100130370 LINC00482 TMEM105 NPB ANAPC11 LOC105376790 MIR4525 MYADML2 CSNK1D NOTUM FAAP100 PDE6G FASN HGS MIR4740 STRA13 MAFG TEX19 TBCD MAFG-AS1 SIRT7 LRRC45 FSCN2 BAHCC1 PYCR1 LOC105371925 FN3KRP ARL16 PCYT2 ARHGDIA WDR45B SLC38A10 MRPL12 ACTG1 AATK-AS1 HEXDC UTS2R FOXK2 CD7 PPP1R27 SECTM1 FN3K B3GNTL1 TSPAN10 ASPSCR1 RFNG TEPSIN DCXR GCGR SLC25A10 LOC105371944 OGFOD3 P4HB |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | MAFG MAFG-AS1 SIRT7 LRRC45 FSCN2 CCDC137 PYCR1 RAC3 GPS1 MCRIP1 ARL16 PCYT2 ARHGDIA MIR6786 NPLOC4 MRPL12 DUS1L PPP1R27 ALYREF TSPAN10 ASPSCR1 RFNG OXLD1 NPB DCXR GCGR ANAPC11 MYADML2 SLC25A10 NOTUM FAAP100 PDE6G HGS P4HB STRA13 |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | PPP1R27 CCDC137 TSPAN10 OXLD1 MCRIP1 GCGR ARL16 SLC25A10 PDE6G MIR6786 HGS P4HB MRPL12 |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | MAFG MAFG-AS1 SIRT7 PYCR1 ALYREF ASPSCR1 NPB ANAPC11 MYADML2 NOTUM PCYT2 ARHGDIA P4HB |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | ZNF750 LOC101929511 RAC3 C17orf62 GPS1 MCRIP1 CCDC57 SLC16A3 SNORD134 DUS1L MIR6787 LOC101929552 NARF ALYREF RAB40B LOC105376791 NPB ANAPC11 LOC105376790 MIR4525 MYADML2 CSNK1D NOTUM FASN STRA13 MAFG TEX19 TBCD MAFG-AS1 SIRT7 LRRC45 PYCR1 METRNL FN3KRP PCYT2 ARHGDIA WDR45B HEXDC UTS2R FOXK2 CD7 PPP1R27 SECTM1 FN3K B3GNTL1 ASPSCR1 RFNG DCXR LOC105371944 OGFOD3 P4HB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |